AB1517 NAILFOLD CAPILLAROSCOPIC STATUS IN HYPERMOBILE EHLERS DANLOS SYNDROME PATIENTS: PILOT INVESTIGATION
Authors: A. Sulli, E. Hysa, A. Cere, F. Lalli, A. Pinelli, S. Sammorì, S. Balito, C. Pizzorni, S. Paolino, V. Smith, M. Cutolo
Journal: Annals of the Rheumatic Diseases (2023)

<h3>Background</h3> Hypermobile Ehlers Danlos syndrome (hEDS) is the most common subtype among the EDS syndromes and is a rare inherited connective tissue disease characterized mostly by hyperextensible skin and generalized joint hypermobility. Microvascular assessment has been documented only by one case report in the "vascular type" of EDS, despite vascular manifestations may occur also in other EDS subtypes [1,2]. A reduced skin thickness has been previously reported in hEDS patients [3]. <h3>Objectives</h3> To investigate, for the first time, nailfold microvascular status in hEDS patients in comparison with healthy controls (HCs). Peripheral blood perfusion (PBP) and dermal thickness (DT) were also assessed. <h3>Methods</h3> Twelve hEDS patients (75% females, mean age 41±16, classified with the 2017 International Classification Criteria of EDS [4]) and twelve age- and sex-matched HCs were observed from 2018 to 2022. Beighton score was calculated for both patients and HCs. Main nailfold videocapillaroscopy (NVC) parameters (dilated capillaries, giant capillaries, microhemorrhages, abnormal shapes and number of capillaries) were analysed and compared between the two groups to assess morphological features [5]. To assess the microvascular functional status, laser speckled contrast analysis (LASCA) was used to measure PBP in several region of interests. DT was also measured by cross-sectional B-mode scans obtained by a high-frequency 22 MHz ultrasound probe in 17 different areas of the body (including upper arms, lower arms, trunk and forehead). <h3>Results</h3> No statistically significant differences were observed in this small cohort between hEDS and HCs concerning the microvascular findings detected by NVC, even if microhemorrages were more prevalent in hEDS patients (33% vs 0 %) (see <b>Table 1</b>). Also, PBP assessed by LASCA was found similar in hEDS patients and HCs (178.12 ± 49.76 perfusional units vs 157.81 ± 67.15 at fingertips, p = 0.43). The mean DT did not significantly differ from hEDS patients and HCs in all skin areas (mean total DT of 18.44 ± 2.21 mm in hEDS patients vs 18.49 ± 2.13 mm in HCs, p = 0.96). As expected, the mean Beighton score was significantly higher in hEDS patients than in HCs (5.54±1.75 vs 1.25±1.58), but no significant correlation was detected between DT and Beighton score (r = 0.1, p = 0.76). <h3>Conclusion</h3> Microhemorrages seem more prevalent in hEDS patients than in ECs, suggesting a subclinical microvascular fragilility also in this subgroup of EDS patients. Skin ultrasound and PBP findings did not detect significant differences between hEDS patients and HCs, which might be due to the small sample size. These findings will be followed by further research including cases of the vascular EDS phenotype [6]. <h3>References</h3> [1]D'hondt S et al. Genet Med 2018. [2]Superti-Furga A et al. Int J Microcirc Clin Exp 1992. [3]Eisenbeiss C et al. Br J Dermatol 2003. [4]Malfait F et al. Am J Med Genet C Semin Med Genet 2017. [5]Sulli A et al. Ann Rheum Dis 2014. [6]Sulli A et al. RMD Open. 2018. <h3>Acknowledgements:</h3> NIL. <h3>Disclosure of Interests</h3> None Declared.